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GTR Home > Conditions/Phenotypes > Meckel syndrome, type 9

Meckel syndrome, type 9

Synonyms
B9D1-Related Meckel Syndrome

Summary

Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). [from OMIM]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1, B9D1
    Summary: B9 domain containing 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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